Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families
2014 · Cell Reports · 465 citations
https://doi.org/10.1016/j.celrep.2014.12.015
H
Hanan E. Shamseldin
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Hanan E. Shamseldin is an academic researcher from King Faisal Specialist Hospital & Research Centre. The author has contributed to research in topics: Genomics and Rare Diseases & Genomic variations and chromosomal abnormalities & Genetics and Neurodevelopmental Disorders. The author has an h-index of 43, co-authored 97 publications.
ORCID: 0000-0002-6199-3523Papers by this author
worksMutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy
2013 · The American Journal of Human Genetics · 176 citations
https://doi.org/10.1016/j.ajhg.2013.07.016
Autozygome and high throughput confirmation of disease genes candidacy
2018 · Genetics in Medicine · 112 citations
https://doi.org/10.1038/s41436-018-0138-x
GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition
2016 · Genome biology · 46 citations
https://doi.org/10.1186/s13059-016-1061-6
Lethal variants in humans: lessons learned from a large molecular autopsy cohort
2021 · Genome Medicine · 29 citations
https://doi.org/10.1186/s13073-021-00973-0
Arab founder variants: Contributions to clinical genomics and precision medicine
2024 · Med · 10 citations
https://doi.org/10.1016/j.medj.2024.10.005
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